1. Gene
  2. RD3 - RD3 regulator of GUCY2D Gene

RD3 - RD3 regulator of GUCY2D Gene

Homo sapiens

Also known as LCA12; C1orf36

Gene ID: 343035 | Gene type: protein coding

About RD3

Cytogenetic location: 1q32.3 Genomic coordinates (GRCh38): 1:211,476,522-211,492,162 (from NCBI)

This gene has 3 transcripts (splice variants), 192 orthologues, 1 paralogue and is associated with 3 phenotypes. Low expression observed in reference dataset.

Summary

This gene encodes a retinal protein that is associated with promyelocytic leukemia-gene product (PML) bodies in the nucleus. Mutations in this gene cause Leber congenital amaurosis type 12, a disease that results in retinal degeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

RD3 Products(2)

mRNA Protein Name
NM_001164688.2 NP_001158160.1 protein RD3
NM_183059.3 NP_898882.1 protein RD3

RD3 Protein Structure

RD3

RD3: RD3 protein (5 - 134)

  • 0
  • 100
  • 195 a.a.
Protein Preferred Names Protein Names

protein RD3

retinal degeneration 3, GUCY2D regulator

Related Diseases

Diseases Alias
Leber Congenital Amaurosis 12

LCA12

Leber Congenital Amaurosis, Type 12

Eye Disease

Eye Diseases

Abnormality Of The Eye

Toxoplasma Oculopathy

Leber Plus Disease

Leber Congenital Amaurosis

Lca

Leber'S Amaurosis

Leber'S Disease

Amaurosis Congenita Of Leber

Amaurosis Congenita Of Leber, Type 1

Lhon Plus Disease

Congenital Absence Of The Rods And Cones

Congenital Retinal Blindness

Crb

Congenital Amaurosis Of Retinal Origin

Leber'S Congenital Amaurosis

Leber Congenital Amaurosis 1

Leber'S Congenital Tapetoretinal Degeneration

Leber'S Congenital Tapetoretinal Dysplasia

Lca1

Leber Congenital Amaurosis Type 1

Retinal Blindness, Congenital

Amaurosis, Leber Congenital

Dysgenesis Neuroepithelialis Retinae

Hereditary Epithelial Dysplasia Of Retina

Hereditary Retinal Aplasia

Heredoretinopathia Congenitalis

Leber Abiotrophy

Leber Congenital Tapetoretinal Degeneration

Lebers Congenital Amaurosis

Optic Atrophy, Hereditary, Leber

Retinal Degeneration

Degeneration Of Retina

Cone-Rod Dystrophy 6

CORD6

Retinal Cone Dystrophy 2

Rcd2

Dystrophy, Cone-Rod, Type 6

Retinitis Pigmentosa 6

Progressive Cone Degeneration

Cone Dystrophy

Intellectual Developmental Disorder, Autosomal Dominant 3

MRD3

Autosomal Dominant Non-Syndromic Intellectual Disability 3

Mental Retardation, Autosomal Dominant 3

Autosomal Dominant Intellectual Developmental Disorder 3

Bardet-Biedl Syndrome 13

BBS13

Bardet-Biedl Syndrome, Type 13

Leber Congenital Amaurosis 2

LCA2

Amaurosis Congenita Of Leber Ii

Amaurosis Congenita Of Leber, Type 2

Leber Congenital Amaurosis Type Ii

Leber Congenital Amaurosis, Type 2

Leber Congenital Amaurosis, Type Ii

Absolute Glaucoma

Blind Hypertensive Eye

Glaucoma Absolute

Pseudopapilledema
Leber Congenital Amaurosis 15

LCA15

Leber Congenital Amaurosis, Type 15

Leber Congenital Amaurosis 4

LCA4

Retinitis Pigmentosa, Juvenile

Cone-Rod Dystrophy

Leber Congenital Amaurosis, Type 4

Retinitis Pigmentosa

Leber Congenital Amaurosis 1

LCA1

Amaurosis Congenita Of Leber I

Lca

Retinal Blindness, Congenital

Crb

Leber Congenital Amaurosis Type I

Leber Congenital Amaurosis, Type 1

Amaurosis Congenita Of Leber, Type 1

Leber Congenital Amaurosis 3

LCA3

Retinitis Pigmentosa 94, Variable Age At Onset, Autosomal Recessive

Leber Congenital Amaurosis, Type 3

Leber Congenital Amaurosis Type 3

Leber Congenital Amaurosis 10

LCA10

Leber Congenital Amaurosis, Type 10

Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1

Guam Disease

Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex Of Guam

Als-Pdc

Lytico-Bodig Disease

Amyotrophic Lateral Sclerosis-Parkinsonism-Dementia Complex

Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1, Susceptibility To

Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex, Susceptibility To

Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex

Amyotrophic Lateral Sclerosis-Parkinsonism-Dementia Of Guam Syndrome

Parkinsonism-Dementia-Als Complex

Pdals

Amyotrophic Lateral Sclerosis, Parkinsonism/Dementia Complex Of Guam

Parkinson-Dementia Complex Of Guam

G-Pdc

Guam Parkinsonism-Dementia Complex

ALS-PDC1

Als/Pdc Of Guam

Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic/Parkinsonism/Dementia Complex 1

Amyotrophic Lateral Sclerosis, Guam Form

Parkinsonian Disorders

Pick Disease Of Brain

Pick Disease

Pick'S Disease

Pick Disease Of The Brain

Lobar Atrophy Of Brain

Dementia With Lobar Atrophy And Neuronal Cytoplasmic Inclusions

Behavioral Variant Of Frontotemporal Dementia

Dementia In Pick'S Disease

Lobar Atrophy Of The Brain

Bvftd

Bv-Ftd

PIDB

Picks Disease

Waardenburg Syndrome, Type 3

Waardenburg Syndrome Type 3

Klein-Waardenburg Syndrome

WS3

Waardenburg Syndrome With Upper Limb Anomalies

Waardenburg Syndrome Type Iii

Waardenburg Syndrome, Type Iii

White Forelock Syndrome With Multiple Congenital Malformations

Waardenburg Syndrome With Limb Anomalies

Waardenburg Syndrome 3

White Forelock With Malformations

Klein'S Syndrome

Keratoconus

Kc

Conical Cornea

Noninflammatory Corneal Thining

Bulging Cornea

Cornea Conical

Acquired Conus Of Cornea

Adrenal Neuroblastoma

Neuroblastoma Of Adrenal Gland

Adrenal Gland Neuroblastoma

Neuroblastoma Nos

Supranuclear Palsy, Progressive, 1

Progressive Supranuclear Palsy

Steele-Richardson-Olszewski Syndrome

Supranuclear Palsy, Progressive

Progressive Supranuclear Ophthalmoplegia

Psp

PSNP1

Familial Progressive Supranuclear Palsy

Richardson'S Syndrome

Psp Syndrome

Progressive Supranuclear Palsy 1

Supranuclear Palsy Progressive

Ophthalmoplegia, Supranuclear, Progressive

Steele-Richardson-Olszewksi Syndrome

Usher Syndrome, Type Iia

Usher Syndrome Type 2a

USH2A

Usher Syndrome, Type 2a

Usher Syndrome Type Iia

Retinal Disease In Usher Syndrome Type Iia, Modifier Of

Us2

Ush2

Usher Syndrome 2a

Usher'S Syndrome Type 2a

Ushiia

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

Joubert Syndrome 1

Joubert Syndrome

Jbts

Cerebellooculorenal Syndrome 1

JBTS1

Joubert-Boltshauser Syndrome

Cerebelloparenchymal Disorder Iv

Cpd4

Cors1

Joubert Syndrome And Related Disorders

Jsrd

Familial Aplasia Of The Vermis

Joubert Syndrome Related Disorders

Js

Cerebellar Vermis Agenesis

Cerebelloparenchymal Disorder 4

Agenesis Of Cerebellar Vermis

Cerebello-Oculo-Renal Syndrome

Cors

Joubert-Bolthauser Syndrome

Cpd Iv

Classic Joubert Syndrome

Joubert Syndrome Type A

Pure Joubert Syndrome

Cerebello-Oculo-Renal Syndrome 1

Joubert Syndrome-1

Joubert Syndrome, Type 1

Joubert'S Syndrome

Achromatopsia

Achm

Rod Monochromatism

Total Color Blindness

Rod Monochromacy

Monochromatism

Achromatism

Complete Or Incomplete Color Blindness

Pingelapese Blindness

Achromatopsia 1

Achromatopsia 2

Achromatopsia 3

Congenital Stationary Night Blindness

Night Blindness, Congenital Stationary

Congenital Essential Nyctalopia

Oguchi Disease

Blindness, Night, Stationary, Congenital

Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus RD3 RGD RGD:1593897
Bos taurus RD3 VGNC VGNC:33839
Felis catus RD3 VGNC VGNC:107928
Mus musculus RD3 MGD MGI:1921273
Macaca mulatta RD3 VGNC VGNC:106482
Others RD3 NCBI